5C51.3

ICD-11 MMS 2026-01

Glycogen storage disease

Description

The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Index terms

  • Glycogen storage disease
  • GSD - [Glycogen storage disease]
  • Glycogenosis
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  • diffuse glycogenosis
  • generalised glycogen storage disease
  • generalised glycogen storage disease of infants
  • generalised glycogenosis
  • glycogen synthase deficiency
  • glycogen thesaurismosis
  • Glycogen storage disease due to glycogen synthase deficiency
  • GSD type 0
  • Glycogen storage disease type 0
  • Glycogenosis type 0
  • deficiency of glycogen synthetase
  • Glycogen storage disease due to liver glycogen synthase deficiency
  • GSD type 0A
  • Glycogen storage disease type 0A
  • Glycogenosis type 0A
  • Glycogen storage disease due to muscle or heart glycogen synthase deficiency
  • Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency
  • GSD type 0B
  • Glycogen storage disease type 0B
  • Glycogenosis type 0B
  • Glycogen storage disease due to glucose-6-phosphate system deficiency
  • GSD type 1
  • Glycogen storage disease type 1
  • Glycogenosis type 1
  • HERS - [hepatorenal glycogen storage disease]
  • Hepatorenal glycogenosis
  • Von Gierke disease
  • glycogen storage disease of liver and kidney
  • hepatorenal glycogen storage disease
  • Glycogen storage disease due to glucose-6-phosphatase deficiency
  • GSD type 1A
  • Glycogen storage disease type 1A
  • Glycogenosis type 1A
  • deficiency of g-6pd
  • g6pd - [glucose-6-phosphate dehydrogenase deficiency]
  • glucose-6-phosphatase deficiency
  • Glycogen storage disease due to glucose-6-phosphate transport defect
  • GSD1B
  • Glycogen storage disease due to glucose-6-phosphate translocase deficiency
  • Glycogen storage disease type 1B
  • Glycogen storage disease type non-1A
  • Glycogenosis type 1B
  • Glycogenosis type non-1A
  • Glucose-6-phosphate dehydrogenase deficiency
  • Glycogen storage disease due to acid maltase deficiency
  • Acid alpha-1,4-glucosidase deficiency
  • Acid maltase deficiency
  • GSD type 2
  • Glycogen storage disease type 2
  • Glycogenosis type 2
  • Pompe disease
  • alpha-glucosidase deficiency
  • deficiency of amyloglucosidase
  • Glycogen storage disease due to acid maltase deficiency, infantile onset
  • GSD2, infantile onset
  • Glycogen storage disease due to acid alpha-1,4-glucosidase deficiency, infantile onset
  • Glycogen storage disease type 2, infantile onset
  • Glycogenosis type 2, infantile onset
  • Infantile Pompe disease
  • lysosomal alpha-1,4-glucosidase deficiency (disorder)
  • Glycogen storage disease due to acid maltase deficiency, juvenile onset
  • Glycogen storage disease due to acid maltase deficiency, adult onset
  • Deficiency of exo-1,4-alpha-glucosidase
  • Deficiency of glucan 1,4-alpha-glucosidase
  • Deficiency of gamma-amylase
  • Deficiency of glucoamylase
  • Deficiency of glucoinvertase
  • Deficiency of glucosidosucrase
  • Deficiency of maltase
  • Glycogen storage disease due to LAMP-2 deficiency
  • GSD type 2B
  • Glycogen storage disease type 2B
  • Glycogenosis type 2B
  • Lysosomal glycogen storage disease with normal acid maltase activity
  • Danon disease
  • Glycogen storage disease due to glycogen debranching enzyme deficiency
  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Cori-Forbes disease
  • Forbes disease
  • Forbes glycogen storage disease
  • GSD type 3
  • Glycogen debranching deficiency
  • Glycogen storage disease type 3
  • Glycogenosis type 3
  • amylo-1,6-glucosidase deficiency disorder
  • debrancher deficiency glycogen storage disease
  • debrancher enzyme deficiency
  • deficiency of 6-alpha-d-glucosidase
  • Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • GSD type 5
  • Glycogen storage disease type 5
  • Glycogenosis type 5
  • McArdle disease
  • Myophosphorylase deficiency
  • myophosphorylase deficiency glycogenosis
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • GSD type 6
  • GSD type 6B
  • Glycogen storage disease type 6
  • Glycogen storage disease type 6B
  • Glycogenosis due to liver phosphorylase deficiency
  • Glycogenosis type 6
  • Glycogenosis type 6B
  • Hers disease
  • deficiency of hepatophosphorylase
  • Glycogen storage disease due to muscle phosphofructokinase deficiency
  • GSD type 7
  • Glycogen storage disease type 7
  • Glycogenosis type 7
  • Muscle phosphofructokinase deficiency
  • Tarui disease
  • anaemia due to phosphofructo-aldolase deficiency
  • Glycogen storage disease due to glycogen phosphorylase kinase deficiency
  • GSD due to phosphorylase kinase deficiency
  • Glycogenosis due to phosphorylase kinase deficiency
  • Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency
  • GSD type 9C - [glycogen storage disease type 9C]
  • GSD6A - [glycogen storage disease type 6A]
  • GSD8 - [glycogen storage disease type 8]
  • GSD9A - [glycogen storage disease type 9A]
  • Glycogen storage disease type 6A
  • Glycogen storage disease type 8
  • Glycogen storage disease type 9A
  • Glycogen storage disease type 9C
  • Glycogenosis type 6A
  • Glycogenosis type 8
  • Glycogenosis type 9A
  • Glycogenosis type 9C
  • Hepatic phosphorylase kinase deficiency
  • Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency
  • GSD type 9B
  • GSD9 - [glycogen storage disease type 9]
  • Glycogen storage disease type 9
  • Glycogen storage disease type 9B
  • Glycogenosis type 9
  • Glycogenosis type 9B
  • Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency
  • Cardiac glycogenosis
  • GSD9F
  • Glycogen storage disease of heart
  • Glycogen storage disease type 9F
  • Glycogenosis type 9F
  • cardiomegalia glycogenica diffusa
  • glycogen heart disease
  • glycogenic myocardial infiltration
  • glycogenic myocardium infiltration
  • Glycogen storage disease due to muscle glycogen phosphorylase kinase deficiency
  • GSD9D - [glycogen storage disease type IXD]
  • GSD9E
  • Glycogen storage disease type 9D
  • Glycogen storage disease type 9E
  • Glycogenosis type 9D
  • Glycogenosis type 9E
  • glycogenosis type IXE
  • muscle glycogen phosphorylase deficiency
  • Glycogen storage disease due to muscle phosphoglycerate mutase deficiency
  • Di Mauro disease
  • GSD type 10
  • Glycogen storage disease type 10
  • Glycogenosis type 10
  • Glycogen storage disease due to GLUT2 deficiency
  • Bickel-Fanconi disease
  • Facilitated glucose transporter protein type 2 deficiency
  • Fanconi-Bickel glycogenosis
  • Fanconi-Bickel syndrome
  • GSD type 11
  • Glycogen storage disease type 11
  • Glycogenosis type 11
  • Glycogen storage disease due to aldolase A deficiency
  • GSD type 12
  • Glycogen storage disease type 12
  • Glycogenosis type 12
  • Glycogen storage disease due to muscle beta-enolase deficiency
  • GSD type 13
  • Glycogen storage disease type 13
  • Glycogenosis type 13
  • Glycogen storage disease due to phosphoglucomutase deficiency
  • GSD type 14
  • Glycogen storage disease type 14
  • Glycogenosis type 14
  • Glycogen storage disease due to glycogenin deficiency
  • GSD type 15
  • Glocogenosis type 15
  • Glycogen storage disease type 15
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • GSD due to phosphoglycerate kinase 1 deficiency
  • Glycogenosis due to phosphoglycerate kinase 1 deficiency
  • Glycogen storage disease due to lactate dehydrogenase deficiency
  • GSD due to lactate dehydrogenase deficiency
  • Glycogenosis due to lactate dehydrogenase deficiency
  • Glycogen storage disease due to muscle pyruvate kinase deficiency
  • GSD due to muscle pyruvate kinase deficiency
  • Glycogenosis due to muscle pyruvate kinase deficiency
  • Glycogen storage liver disease
  • hepatomegalia glycogenica diffusa
  • liver glycogen disease
  • liver phosphorylase deficiency
  • Glycogen storage disease due to branching-transferase deficiency
  • Andersen disease
  • GSD- [Glycogen storage disease] type 4
  • Glycogen storage disease type 4
  • Glycogenosis type 4
  • brancher deficiency glycogen storage disease
  • branching enzyme deficiency
  • branching-transferase deficiency glycogenosis
  • deficiency of 1,4-alpha-glucan branching enzyme
  • deficiency of amylo-(1,4,6)-transglycosylase
  • Dilated cardiomyopathy due to glycogen branching enzyme deficiency
  • Amylopectinosis
  • dilated cardiomyopathy due to Andersen's disease
  • dilated cardiomyopathy due to glycogen storage disease type 4 (GSD4)

Inclusions

  • Glycogen storage disease due to LAMP-2 deficiency
  • Glycogen storage disease due to glycogen debranching enzyme deficiency
  • Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • Glycogen storage disease due to GLUT2 deficiency
  • Glycogen storage disease due to aldolase A deficiency
  • Glycogen storage disease due to muscle beta-enolase deficiency
  • Glycogen storage disease due to phosphoglucomutase deficiency
  • Glycogen storage disease due to glycogenin deficiency
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • Glycogen storage disease due to lactate dehydrogenase deficiency
  • Glycogen storage disease due to muscle pyruvate kinase deficiency
  • Dilated cardiomyopathy due to glycogen branching enzyme deficiency

Exclusions from above levels

  • 5A41 – hypoglycaemia NOS
  • 5A42 – Increased secretion of glucagon
  • 5C56.3 – Mucopolysaccharidosis
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  • http://id.who.int/icd/entity/465177735 – Diabetes mellitus
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C51.0 – Disorders of the pentose phosphate pathway
  • 5C51.1 – Disorders of glycerol metabolism
  • 5C51.2 – Disorders of glyoxylate metabolism
  • 5C51.4 – Disorders of galactose metabolism
  • 5C51.5 – Disorders of fructose metabolism
  • 5C51.Y – Other specified inborn errors of carbohydrate metabolism
  • 5C51.Z – Inborn errors of carbohydrate metabolism, unspecified

Foundation entity

Glycogen storage disease – http://id.who.int/icd/entity/1187107383

Part of: 5C51: Inborn errors of carbohydrate metabolism › 05: Endocrine, nutritional or metabolic diseases